Screening may improve cystic fibrosis outcomes

NEW YORK (Reuters Health) - Individuals with cystic fibrosis (CF) who are identified through newborn screening have improved growth, better overall health, and require fewer long-term therapies than those who are identified later in life when symptoms appear, new research suggests.

CF is a genetic disease involving thick mucus secretions in the lungs and pancreas. Patients with the disease are prone to pneumonia and other complications and have an average lifespan of about 30 years.

Screening newborns for CF is a controversial topic because it is unclear if this approach ultimately improves pulmonary function. However, the studies that have investigated this topic have not accounted for differences in the treatments given to "screen-detected" versus clinically diagnosed patients.

Dr. Erika J. Sims, from the University of East Anglia in Norwich, UK, and colleagues compared outcomes for 990 CF patients, between 1 and 10 years of age, who were identified through newborn screening, or were diagnosed clinically within the first 2 months of life (early-clinically diagnosed), or were diagnosed clinically after 2 months (late-clinically diagnosed).

According to the team's report in the journal Pediatrics, patients identified through screening were taller, generally healthier, and required fewer long-term therapies than late-clinically diagnosed patients. Early-clinically diagnosed patients typically had outcomes similar to their screen-detected peers.

"Patients with cystic fibrosis diagnosed by symptom presentation after the age of 2 months manifest worse clinical outcomes despite receiving higher levels of long-term therapy for at least the first 10 years," the authors conclude.

However, consistent with previous reports, screen detection did not significantly improve lung function despite the improved outcomes, the results indicate.

Overall, team says, "Newborn screening for cystic fibrosis provides an opportunity to maximize the clinical potential of patients whose survival may otherwise be limited to early adulthood."

SOURCE: Pediatrics, January 2007.